Dr Child’s Publications
Selected Publications
WOOD J R, BELLAMY D, CHILD A H and CITRON K M. (1984) Pulmonary Disease in Patients with Marfan Syndrome. Thorax 39, 780-784.
CHILD A H and BIRDWOOD G (eds) (1987). Marfan Syndrome - A Clinical Guide. British Heart Foundation, London .
DE BELDER M A, CHILD A H and PUMPHREY C W (1989). The Timing of Aortic Root Replacement in Marfan Syndrome. Curr. Med. Lit. Cardiovasc. Med. 8(3). 67-70.
BLANTON S H, SARFARAZI M, EIBERG H. DE GROOTE J, FARNDON P A, KILPATRICK M W, CHILD A H, POPE F M, PELTONEN L, FRACOMANO C A (1990).An exclusion Map of Marfan Syndrome. J. Med. Genet. 27; 73-77.
DE GROOTE J, FARNDON P A, KILPATRICK M, DE PAEPE A, OORTHUYS J W, NEVIN N C, CHILD A H, POPE F M (1990). Linkage Data for Marfan Syndrome and Markers on Chromosome 1 and 11. J. Med. Genet. 27; 82-85.
KAINULAINEN K, STEINMANN B, COLLINS F, DIETZ H C, FRANCOMANO C A, CHILD A H, KILPATRICK M W, BROCK D J H, KESTON M, PYERIT Z, REED E , PELTONEN L (1991).Marfan syndrome: - No Evidence for Heterogeneity in Different Populations, and more Precise Mapping of the Gene. Am. J. Hum. Genet. 49; 662-667.
KAINULAINEN K, SAKAI L Y, CHILD A H, POPE F M, PUHAKKA L, RYHANEN L, PALOTIE A, KATILA I and PELTONEN L. (1992). Two Mutations in Marfan Syndrome Resulting in Truncated Fibrillin Polypeptides. Proc. Natl. Acad. Sci. USA, Vol. 89, pp. 5917-5921, Genetics.
TSIPOURAS P, DEL MASTRO R, SARFARAZI M, LEE B, VITALE E, CHILD A H, GODFREY M, DEVEREUX RB, HEWETT D, STEINMANN B, VILJOEN D, SYKES B D, KILPATRICK M, RAMIREZ F. (1992). The International Marfan Syndrome Collaborative Study. Genetic Linkage of the Marfan Syndrome, Ectopia Lentis, and Congenital Contractural Arachnodactyly to the Fibrillin genes on Chromosomes 15 and 5. NEJM, 326 (14); 995-909.
SARFARAZI M, TSIPOURAS P, DEL MASTRO R, KILPATRICK M, FARNDON P, BOXER M, BRIDGES A, BOILEAU C, JUNIEN C, HAYWARD C, BROCK D, CHILD A H (1992). A Linkage Map of 10 Loci Flanking the Marfan Syndrome Locus on 15q: Results of an International Consortium Study. J. Med. Genet.; 29: 75-80.
HEWETT D R, LYNCH J R, CHILD A H, SYKES BC (1994). A Novel Missense Mutation of Fibrillin in a Patient with Marfan Syndrome. J. Med. Genet. Vol 34. 338-9.
RAGHUNATH M, KIELTY CM, KAINULAINEN K, CHILD A H, PELTONEN L, STEINMANN B. (1994). Analyses of Truncated Fibrillin caused by a 366 bp Deletion in the FBN1 Gene resulting in Marfan Syndrome. Biochem. J. 302, 889-896.
KIELTY C M, PHILLIPS J E, CHILD A H, POPE F M, SHUTTLEWORTH C A. (1994). Fibrillin Secretion and Microfibril Assembly by Marfan Dermal Fibroblasts. Matrix Biology. 14: 191-199.
HEWETT B, LYNCH J, CHILD A H, FIRTH H, SYKES BC (1994) Differential Allelic Expression of a Fibrillin Gene FBN1 in Patients with Marfan Syndrome. Am. J. Hum. Genet. 52, 447-452.
TOBIAS J H, DALZELL N, CHILD A H. (1995) Assessment of Bone Mineral Density in Women with Marfan Syndrome. Br. J. of Rheum. 34; 516-519.
SHABBEER J,CHILD A H, YACOUB M. (1995) Molecular and Surgical Aspects of Marfan Syndrome. Annual of Cardiac Surgery, 8th Edition (eds. M. Yacoub and J. Pepper), Current Science, pages 56-61.
RANTAMAKI T, RAGHUNATH M, KARTTUNEN S, LONNQVIST L, CHILD A H, and PELTONEN L. (1995). Prenatal Diagnosis of Marfan Syndrome: Identification of Fibrillin-1 Mutation in Chorionic Villus Sample. Prenatal Diagnosis, 15: 1176-1181.
THOMAS S M, YOUNGER K A, CHILD A H, WILSON AG (1996). Is the Metacarpal Index Useful in the Diagnosis of Marfan Syndrome? Cl. Radiol. 51: 570-574.
CHILD A H. Marfan Syndrome – Current Medical and Genetic Knowledge: How to Treat and When. (1997). J. Card. Surg. 12 (Suppl.) 131-136.
COMEGLIO P, EVANS A L, BRICE G, COOLING R J, CHILD AH. Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. Br J Ophthalmol 2002:86: 1359-1362.
WILLIAMS A, CHILD A H, ROWNTREE J, JOHNSON P, DONNAI P. Marfan syndrome; successful pregnancy after aortic root and arch replacement. BJOG. 2002 Oct ; 109(10):1187-8.
COMEGLIO P, EVANS A L, BRICE G W, ANDERLID B M, CHILD A H. Gene symbol: FBN1. Disease: Marfan syndrome. Hum Genet. 2003 Jan;112(1):104.
BEHAN W M, LONGMAN C, PETTY R K, COMEGLIO P, CHILD A H, BOXER M, FOSKETT P, HARRIMAN D G. Muscle fibrillin deficiency in Marfan's syndrome myopathy. J Neurol Neurosurg Psychiatry. 2003 May;74(5):633-8.
ELCIOGLU N H, AKALIN F, ELCIOGLU M, COMEGLIO P, CHILD AH. Neonatal Marfan syndrome caused by exon 25 mutation of the fibrillin-1 gene. Genet Counsel 2004 vol 15 (2):219-225.
HASAN A, POLONIECKI J, CHILD A H. Ageing in Marfan syndrome. International Journal of Clinical Practice. Int J Clin Pract. 2007 Aug;61(8):1308-20.
COMEGLIO P, JOHNSON P, ARNO G, BRICE G, EVANS A, ARAGON-MARTIN J, Da SILVA FP, KIOTSEKOGLOU A, CHILD A H. The importance of mutation detection in Marfan syndrome and Marfan-related disorders: Report of 193 FBN1 mutations. Hum Mutat. 2007 Sep;28(9):928.
Book Chapters
CHILD A H (1997) Management of pregnancy in Marfan syndrome, Ehlers-Danlos syndrome, and other heritable connective tissue disorders. In: Heart Disease in Pregnancy. Oakley CM, ed. BMJ Publishing Group, London. 153-162.
CHILD A H, TREASURE T, REYNOLDS C, VALENCIA O, GALLIVAN S. (1999).
The Timing of Aortic Root Replacement in the Marfan Syndrome: Computerised Decision Support. Cardiac Surgery and Concomitant Disease . Ed. J. Emnker. Steinkopff Verlag Darmstadt .
CHILD A H, LUITGARD N, ROBINSON P N.(2004).
Diagnosis and treatment of Marfan syndrome- a summary. In: Marfan syndrome: a primer for clinicians and scientists . Ed.Robinson, P N and Godfrey M. Kluwer Publishing/Landes Bioscience.
CHILD A H .(2005)
Marfan syndrome. In: Clinical Medicine . Ed. By Kumar P and Clark, M. Saunders, 5th edition.
Lay Publications
CHILD A H and RUST D L. The Marfan Syndrome: A Booklet for Teachers, 1992.
The Marfan Association U.K.
BRICE, G, CHILD A H STEER P J. Pregnancy in Marfan syndrome: a pamphlet for obstetricians.2001.The Marfan Trust/Bluff Field Charitable Trust.
CHILD A H and BRIGGS M J. Revised edition (2002). Marfan syndrome – A Clinical Guide.
HYDE L, ROWNTREE J, CHILD A H. Dental aspects of Marfan syndrome. A pamphlet for dentists. 2002 MarfanTrust /Bluff Field Charitable Trust.
CHILD A H, PRAVEEN C V, ROWNTREE J, PRIOR A J. ENT aspects of Marfan syndrome 2002. Marfan Trust/Bluff Field Charitable Trust.
CHILD A H, ROWNTREE J, GRAHAME R, MORLEY T. Musculoskeletal problems in Marfan syndrome: a pamphlet for rheumatologists and orthopaedic surgeons.2002 Marfan Trust/Bluff Field Charitable Trust.
CHILD A H, ROWNTREE J. Growing older with Marfan syndrome. 2003. Marfan Trust/Bluff Field Charitable Trust.
DAWKINS J, ROWNTREE J, CHILD A H. Psychosocial Aspects of Marfan syndrome 2003. Marfan Trust/Bluff Field Charitable Trust.
B DAVIES, CHILD A H. Exercise in Marfan syndrome. Marfan Trust, The Ammco Trust and Alexandra Rose Day.